Incidental Mutation 'R9480:Poldip2'
ID 716201
Institutional Source Beutler Lab
Gene Symbol Poldip2
Ensembl Gene ENSMUSG00000001100
Gene Name polymerase (DNA-directed), delta interacting protein 2
Synonyms 1300003F06Rik, mitogenin 1
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9480 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 78403105-78413562 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78411988 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 308 (L308S)
Ref Sequence ENSEMBL: ENSMUSP00000001127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001127] [ENSMUST00000017759] [ENSMUST00000108277]
AlphaFold Q91VA6
Predicted Effect probably damaging
Transcript: ENSMUST00000001127
AA Change: L308S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001127
Gene: ENSMUSG00000001100
AA Change: L308S

DomainStartEndE-ValueType
low complexity region 29 47 N/A INTRINSIC
YccV-like 74 210 1.03e-39 SMART
Pfam:DUF525 252 338 2.3e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000017759
SMART Domains Protein: ENSMUSP00000017759
Gene: ENSMUSG00000017615

DomainStartEndE-ValueType
BTB 28 128 4.8e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108277
SMART Domains Protein: ENSMUSP00000103912
Gene: ENSMUSG00000017615

DomainStartEndE-ValueType
BTB 28 128 4.8e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133601
SMART Domains Protein: ENSMUSP00000127708
Gene: ENSMUSG00000001100

DomainStartEndE-ValueType
YccV-like 40 176 1.03e-39 SMART
Pfam:DUF525 218 278 4.9e-17 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that interacts with the DNA polymerase delta p50 subunit, as well as with proliferating cell nuclear antigen. The encoded protein maybe play a role in the ability of the replication fork to bypass DNA lesions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit preweaning lethality and decreased body size. Mice heterozygous for this allele exhibit abnormal induced vasoconstriction and vasodilation with abnormal aorta elastic tissue morphology. [provided by MGI curators]
Allele List at MGI

All alleles(34) : Gene trapped(34)
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T A 16: 14,211,889 (GRCm39) W142R probably damaging Het
Abcc6 A G 7: 45,629,197 (GRCm39) S1350P probably damaging Het
Abraxas2 G T 7: 132,473,323 (GRCm39) V84L probably benign Het
Adam12 T A 7: 133,736,470 (GRCm39) I81F probably damaging Het
Adam22 A G 5: 8,193,077 (GRCm39) V376A probably benign Het
Anapc11 T A 11: 120,496,176 (GRCm39) I60N probably damaging Het
Apcdd1 C T 18: 63,055,731 (GRCm39) probably benign Het
Atrnl1 T A 19: 57,690,420 (GRCm39) V876E possibly damaging Het
Bcar3 C T 3: 122,277,618 (GRCm39) R21* probably null Het
Calb1 T A 4: 15,885,608 (GRCm39) S60T probably benign Het
Ceacam9 A G 7: 16,457,783 (GRCm39) T99A probably damaging Het
Cemip2 C A 19: 21,775,622 (GRCm39) H288Q possibly damaging Het
Chst13 G A 6: 90,286,506 (GRCm39) P152L probably damaging Het
Cnot1 T C 8: 96,497,338 (GRCm39) D213G possibly damaging Het
Col23a1 T A 11: 51,207,774 (GRCm39) C105S unknown Het
Cxcl2 T C 5: 91,052,029 (GRCm39) V45A possibly damaging Het
Ddx21 T C 10: 62,434,652 (GRCm39) T36A probably benign Het
Dlgap4 G T 2: 156,546,514 (GRCm39) R394L possibly damaging Het
Dus2 C T 8: 106,757,052 (GRCm39) Q81* probably null Het
Fat3 T C 9: 15,942,703 (GRCm39) D1223G probably damaging Het
Fgf3 G T 7: 144,396,619 (GRCm39) R211L possibly damaging Het
Galnt17 T A 5: 130,935,576 (GRCm39) E369V probably damaging Het
Gatad2a T C 8: 70,388,459 (GRCm39) D76G probably damaging Het
Gin1 A G 1: 97,705,198 (GRCm39) E96G probably damaging Het
Gpr55 A C 1: 85,868,977 (GRCm39) Y201* probably null Het
Hgsnat T C 8: 26,442,029 (GRCm39) N499D possibly damaging Het
Hipk2 G T 6: 38,680,377 (GRCm39) P988T probably benign Het
Hivep1 A T 13: 42,337,058 (GRCm39) Q2379L probably damaging Het
Kat14 T A 2: 144,215,745 (GRCm39) C77S probably damaging Het
Klhl25 T C 7: 75,516,120 (GRCm39) V342A probably damaging Het
Krt35 T C 11: 99,986,609 (GRCm39) Q135R probably benign Het
Lhfpl2 T A 13: 94,310,733 (GRCm39) M1K probably null Het
Lipk T A 19: 33,999,101 (GRCm39) L132Q probably damaging Het
Lrrc39 T A 3: 116,359,475 (GRCm39) C7S probably benign Het
Ltb4r2 T A 14: 56,000,089 (GRCm39) W237R probably damaging Het
Mesp2 A G 7: 79,461,034 (GRCm39) I120V probably damaging Het
Mfsd6 A G 1: 52,699,835 (GRCm39) V771A unknown Het
Mtfmt A T 9: 65,351,181 (GRCm39) T243S possibly damaging Het
Nlrp12 A T 7: 3,288,993 (GRCm39) C506* probably null Het
Ntng2 T A 2: 29,137,997 (GRCm39) Y19F probably damaging Het
Nxt2 C T X: 141,020,747 (GRCm39) A118V possibly damaging Het
Orc4 T C 2: 48,795,563 (GRCm39) T388A probably benign Het
P4hb A T 11: 120,463,551 (GRCm39) V28D probably damaging Het
Phkb T G 8: 86,684,216 (GRCm39) S424R probably benign Het
Prkd1 T A 12: 50,435,283 (GRCm39) E481D probably benign Het
Serping1 C T 2: 84,600,487 (GRCm39) S285N probably benign Het
Sh2d2a A C 3: 87,759,638 (GRCm39) I350L probably benign Het
Siglecf G T 7: 43,001,666 (GRCm39) V159L possibly damaging Het
Sspo A G 6: 48,470,820 (GRCm39) N36S probably damaging Het
Sytl2 C T 7: 90,020,718 (GRCm39) T147M possibly damaging Het
Tmc7 A G 7: 118,141,226 (GRCm39) F635S probably benign Het
Tmco1 C T 1: 167,157,757 (GRCm39) L175F Het
Ttc39d A G 17: 80,524,139 (GRCm39) H266R probably benign Het
Usp33 T G 3: 152,079,086 (GRCm39) I446R possibly damaging Het
Usp48 G A 4: 137,340,996 (GRCm39) G332E probably benign Het
Zbtb49 T A 5: 38,358,409 (GRCm39) T615S possibly damaging Het
Zbtb8a G T 4: 129,253,875 (GRCm39) H206Q probably benign Het
Zfp180 A G 7: 23,804,628 (GRCm39) N349S probably benign Het
Zfp345 A T 2: 150,315,212 (GRCm39) C108* probably null Het
Zfp420 T A 7: 29,575,497 (GRCm39) H572Q probably benign Het
Zfp423 A G 8: 88,631,115 (GRCm39) probably null Het
Zfp820 T A 17: 22,037,994 (GRCm39) T445S possibly damaging Het
Zim1 T C 7: 6,681,050 (GRCm39) I204M probably benign Het
Zpld2 G A 4: 133,929,312 (GRCm39) P331L probably benign Het
Other mutations in Poldip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01959:Poldip2 APN 11 78,403,133 (GRCm39) unclassified probably benign
IGL02119:Poldip2 APN 11 78,408,734 (GRCm39) missense probably damaging 1.00
IGL02565:Poldip2 APN 11 78,408,678 (GRCm39) missense probably damaging 1.00
IGL02735:Poldip2 APN 11 78,403,162 (GRCm39) missense probably benign 0.04
IGL03115:Poldip2 APN 11 78,411,970 (GRCm39) splice site probably benign
F6893:Poldip2 UTSW 11 78,410,020 (GRCm39) missense probably damaging 1.00
IGL02980:Poldip2 UTSW 11 78,412,054 (GRCm39) missense probably damaging 1.00
R0255:Poldip2 UTSW 11 78,403,189 (GRCm39) missense probably benign 0.02
R0932:Poldip2 UTSW 11 78,403,294 (GRCm39) missense possibly damaging 0.52
R1014:Poldip2 UTSW 11 78,405,988 (GRCm39) missense probably damaging 1.00
R4797:Poldip2 UTSW 11 78,404,813 (GRCm39) missense probably damaging 1.00
R5505:Poldip2 UTSW 11 78,406,001 (GRCm39) missense probably benign
R6285:Poldip2 UTSW 11 78,408,458 (GRCm39) splice site probably null
R8917:Poldip2 UTSW 11 78,412,667 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGTCATTGGCCATGATGTG -3'
(R):5'- GACCACAAGTTCAGCTTACTCAG -3'

Sequencing Primer
(F):5'- CCATGATGTGGGAGGAAGTCCTG -3'
(R):5'- TCTCCCAAGTGCTAGGACTGTAG -3'
Posted On 2022-07-18